نتایج جستجو برای: wiskott
تعداد نتایج: 1772 فیلتر نتایج به سال:
The Authors described the case of a 2-year-old child presenting with typical clinical features MIS-C finally diagnosed as Wiskott-Aldrich immunodeficiency.
wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia (xlt) that presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...
The Wiskott-Aldrich syndrome is an X-linked hereditary disorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers. It is caused by mutations in the gene (WAS) for the Wiskott-Aldrich syndrome protein (WASP). We investigated family members of the patients originally described by Wiskott in 1937 a...
Podosomes are actin-based adhesions involved in migration of cells that have to cross tissue boundaries such as myeloid cells. The Wiskott Aldrich Syndrome Protein regulates de novo actin polymerization during podosome formation and it is cleaved by the protease calpain during podosome disassembly. The mechanisms that may induce the Wiskott Aldrich Syndrome Protein cleavage by calpain remain un...
Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...
BACKGROUND T-cell activation relies on the assembly of the immunological synapse, a structure tightly regulated by the actin cytoskeleton. The precise role of the Wiskott-Aldrich syndrome protein, an actin cytoskeleton regulator, in linking immunological synapse structure to downstream signaling remains to be clarified. DESIGN AND METHODS To address this point, CD4(+) T cells from patients wi...
Wiskott-Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene. Wiskott-Aldrich syndrome is sometimes difficult to differentiate from immune thrombocytopenic purpura. A 2-month-old boy was admitted to our hospital for purpura and thrombocytopenia. His mean platelet volume was reported to be normal. Treatment with intravenous immunoglobulins failed to imp...
wiskott-aldrich is an x-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. we report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. from the family pedigree, there were two suspected cases t...
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich...
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